Canonical Allele Identifier: CA1949575373
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253307C= , CM000673.2:g.5253307C= GRCh38
NC_000011.9:g.5274537C= , CM000673.1:g.5274537C= GRCh37
NC_000011.8:g.5231113C= NCBI36
NG_000007.3:g.44309G=

Transcript Alleles

HGVS Amino-acid change
ENST00000336906.6:c.414G= MANE Select ENSP00000338082.4:p.Val138=
ENST00000380252.6:c.249G= ENSP00000369602.2:p.Val83=
ENST00000642908.1:c.315+985G= ENSP00000495346.1:n.315+985G=
ENST00000647543.1:c.378+36G= ENSP00000496470.1:n.378+36G=
ENST00000336906.4:c.414G= ENSP00000338082.4:p.Val138=
ENST00000380252.5:c.384G= ENSP00000369602.1:p.Val128=
ENST00000380259.6:c.414G= ENSP00000369609.2:p.Val138=
ENST00000620888.4:c.315+985G= ENSP00000479637.1:n.315+985G=
NM_000184.2:c.414G= NP_000175.1:p.Val138=
NM_000184.3:c.414G= MANE Select NP_000175.1:p.Val138=